chr2:240785062:C>T Detail (hg38) (KIF1A)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr2:241,724,479-241,724,479 View the variant detail on this assembly version.
hg38	chr2:240,785,062-240,785,062

HGVS

KIF1A

Type	Transcript	Protein
RefSeq	NM_004321.6:c.647G>A	NP_004312.2:p.Arg216His
	NM_001244008.1:c.647G>A	NP_001230937.1:p.Arg216His
	NM_001320705.1:c.647G>A	NP_001307634.1:p.Arg216His
Ensemble	ENST00000320389.12:c.647G>A	ENST00000320389.12:p.Arg216His
	ENST00000404283.9:c.647G>A	ENST00000404283.9:p.Arg216His
	ENST00000431776.7:c.647G>A	ENST00000431776.7:p.Arg216His
	ENST00000498729.9:c.647G>A	ENST00000498729.9:p.Arg216His
	ENST00000647572.2:c.647G>A	ENST00000647572.2:p.Arg216His
	ENST00000647731.1:c.647G>A	ENST00000647731.1:p.Arg216His
	ENST00000647885.1:c.647G>A	ENST00000647885.1:p.Arg216His
	ENST00000648047.2:c.647G>A	ENST00000648047.2:p.Arg216His
	ENST00000648129.1:c.647G>A	ENST00000648129.1:p.Arg216His
	ENST00000648364.1:c.647G>A	ENST00000648364.1:p.Arg216His
	ENST00000648680.1:c.647G>A	ENST00000648680.1:p.Arg216His
	ENST00000649096.1:c.647G>A	ENST00000649096.1:p.Arg216His
	ENST00000649306.1:c.647G>A	ENST00000649306.1:p.Arg216His
	ENST00000650053.1:c.647G>A	ENST00000650053.1:p.Arg216His
	ENST00000650130.1:c.647G>A	ENST00000650130.1:p.Arg216His
	ENST00000674907.2:c.647G>A	ENST00000674907.2:p.Arg216His
	ENST00000675126.2:c.647G>A	ENST00000675126.2:p.Arg216His
	ENST00000675940.2:c.647G>A	ENST00000675940.2:p.Arg216His
	ENST00000715177.1:c.647G>A	ENST00000715177.1:p.Arg216His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

KIF1A

Type	Database	ID	Link
Gene	MIM	601255	OMIM
	HGNC	888	HGNC
	Ensembl	ENSG00000130294	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM2909919	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2020-06-15	criteria provided, single submitter	Intellectual disability, autosomal dominant 9	germline unknown	Detail
Pathogenic	2015-08-07	criteria provided, single submitter	PEHO syndrome	de novo	Detail
Pathogenic Likely pathogenic	2022-05-16	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
not provided		no assertion provided	KIF1A-related disorder	de novo	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.240	MENTAL RETARDATION, AUTOSOMAL DOMINANT 9	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) AND Intellectual disability, autosomal dominant 9	ClinVar	Detail
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) AND PEHO syndrome	ClinVar	Detail
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) AND not provided	ClinVar	Detail
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) AND KIF1A-related disorder	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs672601368 dbSNP
Genome: hg38
Position: chr2:240,785,062-240,785,062
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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